Informe de la Prueba Myriad myrisk

Transcripción

1 GUÍA DEL PROVEEDOR DE ATENCIÓN MÉDICA Informe de la Prueba Myriad myrisk Cómo usar el informe para lograr resultados claros, accionables y que sirvan como guía Impulsado por

2 Conocimiento preciso sobre los riesgos de cáncer. Orientación accionable para el manejo de los pacientes. La prueba myrisk de Myriad: Evalúa un gran número de síndromes de cáncer hereditario Combina los resultados del perfil genético con los antecedentes familiares y personales de cáncer para un seguimiento claro y accionable Incluye recomendaciones de manejo para pacientes con resultados positivos o negativos basados en pautas establecidas por la sociedad médica, como la National Comprehensive Cancer Network (NCCN), la International Cancer of the Pancreas Screening (CAPS), el modelo de Claus para valoración del riesgo, los criterios de Amsterdan, entre otros Se centra en ocho tipos de cáncer pasibles de tratamiento médico, lo que incluye cáncer de mama, colorrectal, gástrico, de endometrio, de páncreas, de próstata y melanoma El informe de la prueba consiste en: Resultado Genético myrisk Herramienta de Manejo myrisk 2

3 Esquema de resultados: Estudio de caso Información sobre la paciente Mujer de 36 años de edad Alerta de riesgo por antecedentes familiares y personales de cáncer Visita Conversación sobre el manejo Herramienta de Manejo myrisk myrisk Management Tool Associated with: Name: Patient Name DOB: Jan 12, 1970 Accession #: BLD Report Date: Jun 30, 2014 Resultado Genético myrisk RESULT: POSITIVE CLINICALLY SIGNIFICANT MUTATION IDENTIFIED Note: CLINICALLY SIGNIFICANT, as defined in this report, is a genetic change that is associated with the potential to alter medical intervention. INFORMATION ON HOW CANCER RISKS AND MANAGEMENT ARE DETERMINED The myrisk Management Tool provides cancer risk levels based on analysis of genetic test results (see Genetic Test Report) and management recommendations based on a combined analysis of genetic test results and personal /family cancer history. Additional details can be found on A comprehensive risk assessment may include other aspects of the patient s personal/family medical history, as well as lifestyle, environment and other factors. Changes in personal/family history or additional data regarding specific genes/mutations may affect the cancer risk estimates and management recommendations within this report. Personal/family history should be updated with a healthcare provider on a regular basis. Management recommendations are provided for personal/family history of colorectal adenomas, breast, colorectal, melanoma, pancreatic and prostate cancers. African-American ethnicity, as reported on the test request form, was used in assessment for prostate cancer management. Cancer risks and related management are included based on the gender provided. Patients who have a clinical diagnosis of a genetic cancer syndrome (i.e., Hereditary Breast and Ovarian Cancer syndrome, Lynch syndrome, etc.) may have different management recommendations than provided. Management should be personalized based on all known clinical diagnoses. The Genetic Test Result Summary includes: female breast, male breast, colorectal, endometrial, gastric, melanoma, ovarian, pancreatic, and prostate cancer. In this summary a gene associated cancer risk is described as High Risk for a cancer type if all of the following conditions are met: the absolute cancer risk is 2% or higher, the increase in cancer risk over the general population is 3-fold or higher, and there is substantive evidence supporting the cancer risk range. A gene is described as Elevated Risk for a cancer type if there are sufficient data to support an increase in cancer risk over the general population risk, but not all criterion for High Risk are met. INFORMATION FOR FAMILY MEMBERS This patient s relatives are at risk for carrying the same mutation(s) and associated cancer risks as this patient. Cancer risks for females and males who have this/these mutation(s) are provided below. Family members should talk to a healthcare provider about genetic testing. Closest relatives such as parents, children, brothers, and sisters have the highest chance of having the same mutation(s) as this patient. Other more distant relatives such as cousins, aunts, uncles, and grandparents also have a chance for carrying the same mutation(s). Testing of at-risk relatives can identify those family members with the family specific mutation(s) who may benefit from surveillance and early intervention. Tools to aid in family testing are available at CANCER TYPE CANCER RISK RISK FOR GENERAL POPULATION RELATED TO FEMALE BREAST To age 50 Up to 51% 1.9% BRCA1 To age 70 Up to 87% 7.3% BRCA1 Second primary within 5 years of first diagnosis 20% 2.0% BRCA1 myrisk Management Tool: Page 4 of 5 OVARIAN To age 50 Up to 23% 0.2% BRCA1 To age 70 Up to 44% 0.7% BRCA1 Ovarian cancer within 10 years of breast cancer diagnosis 12.7% <1% BRCA1 PANCREATIC To age 80 Elevated Risk 1.0% BRCA1 3

4 Resultado Genético myrisk TM El nuevo y revolucionario informe presenta el Resultado Genético myrisk en primer lugar seguido de claras consideraciones de manejo conforme las pautas establecidas Integrated BRACAnalysis with Myriad myrisk Hereditary Cancer myrisk Genetic Result Los símbolos y indican si se ha identificado una mutación de relevancia clínica. Si el resultado es positivo, la mutación genética aparece especificada con la nomenclatura correspondiente y se presenta su importancia clínica y funcional. RECEIVING HEALTHCARE PROVIDER Physician Name, MD Myriad Healthcare Partners 320 Wakara Way Salt Lake City, UT ORDERING PHYSICIAN: Physician Name, MD SPECIMEN Specimen Type: Buccal Draw Date: Jun 8, 2014 Accession Date: Jun 9, 2014 Report Date: Jun 30, 2014 RESULT: POSITIVE CLINICALLY SIGNIFICANT MUTATION IDENTIFIED PATIENT Name: Patient Name Date of Birth: Jan 12, 1970 Patient ID: 1144 Gender: Female Accession #: BLD Requisition #: Note: CLINICALLY SIGNIFICANT, as defined in this report, is a genetic change that is associated with the potential to alter medical intervention. GENE MUTATION INTERPRETATION BRCA1 c.68_69del (p.glu23valfs*17) Heterozygous DETAILS ABOUT: BRCA1 c.68_69del (p.glu23valfs*17): NM_ ; AKA: 187delAG ADDITIONAL FINDINGS: NO VARIANT(S) OF UNCERTAIN SIGNIFICANCE (VUS) IDENTIFIED HIGH CANCER RISK This patient has Hereditary Breast and Ovarian Cancer (HBOC) syndrome. Functional Significance: Deleterious Abnormal Protein Production and/or Function The heterozygous germline BRCA1 mutation c.68_69del is predicted to result in the premature truncation of the BRCA1 protein at amino acid position 39 (p.glu23valfs*17). Clinical Significance: High Cancer Risk This mutation is associated with increased cancer risk and should be regarded as clinically significant. Details About Non-Clinically Significant Variants: All individuals carry DNA changes (i.e., variants) and most variants do not increase an individual s risk of cancer or other diseases. When identified, variants of uncertain significance (VUS) are reported. Likely benign variants (Favor Polymorphisms) and benign variants (Polymorphisms) are not reported and available data indicate that these variants most likely do not cause increased cancer risk. Present evidence does not suggest that non-clinically significant variant findings be used to modify patient medical management beyond what is indicated by the personal and family history and any other significant clinical findings. Variant Classification: Myriad s myvision Variant Reclassification Program continuously performs ongoing evaluations of variant classifications. In certain cases, healthcare providers may be contacted for more clinical information or to arrange family testing to aid in variant classification. When new evidence about a variant is identified, that information will automatically be made available to the healthcare provider through an amended report. myrisk Genetic Result: Page 1 of 2 4

5 Integrated BRACAnalysis with Myriad myrisk Hereditary Cancer myrisk Genetic Result RECEIVING HEALTHCARE PROVIDER Physician Name, MD Myriad Healthcare Partners 320 Wakara Way Salt Lake City, UT ORDERING PHYSICIAN: Physician Name, MD SPECIMEN Specimen Type: Buccal Draw Date: Jun 8, 2014 Accession Date: Jun 9, 2014 Report Date: Jun 30, 2014 PATIENT Name: Patient Name Date of Birth: Jan 12, 1980 Patient ID: 1144 Gender: Female Accession #: BLD Requisition #: RESULT: NEGATIVE / NO CLINICALLY SIGNIFICANT MUTATION IDENTIFIED Note: CLINICALLY SIGNIFICANT, as defined in in this report, is is a genetic change that is is associated with the potential to to alter medical intervention. ADDITIONAL FINDINGS: VARIANT(S) OF UNCERTAIN SIGNIFICANCE (VUS) IDENTIFIED GENE VARIANT(S) OF UNCERTAIN SIGNIFICANCE INTERPRETATION UNCERTAIN CLINICAL SIGNIFICANCE PALB2 T1099K (3296C>A) There are currently insufficient data to determine if if these variants cause increased cancer risk Details About Non-Clinically Significant Variants: All individuals carry DNA changes (i.e., variants) and most variants do not increase an individual s risk of cancer or other diseases. When identified, variants of uncertain significance (VUS) are reported. Likely benign variants (Favor Polymorphisms) and benign variants (Polymorphisms) are not reported and available data indicate that these variants most likely do not cause increased cancer risk. Present evidence does not suggest that non-clinically significant variant findings be used to modify patient medical management beyond what is is indicated by the personal and family history and any other significant clinical findings. Variant Classification: Myriad s myvision Variant Reclassification Program continuously performs ongoing evaluations of variant classifications. In In certain cases, healthcare providers may be contacted for more clinical information or to arrange family testing to aid in in variant classification. When new evidence about a variant is is identified, that information will automatically be made available to the healthcare provider through an amended report. ADDITIONAL INFORMATION Incluye información sobre la presencia de variantes genéticas de importancia incierta que no se consideran clínicamente significativas. Cuando surjan nuevos datos sobre una variante, el proveedor de atención médica recibirá un informe enmendado que incluirá la información actualizada. GENES ANALYZED* APC CDKN2A 1 PMS2 ATM CHEK2 PTEN BARD1 EPCAM 2 TP53 BMPR1A MLH1 RAD51C BRCA1 MSH2 RAD51D BRCA2 MSH6 SMAD4 BRIP1 MUTYH STK11 CDH1 NBN CDK4 PALB2 Unless otherwise noted sequencing and large rearrangement analyses were performed on the above genes. Other genes not analyzed with this test may also be associated with cancer. 1 Analysis of p16ink4a and p14arf. 2 Large rearrangement only. Indication for Testing: It is our understanding that this individual was identified for testing due to a personal or family history suggestive of a hereditary predisposition for cancer. Associated Cancer Risks and Clinical Management: Please see the Cancer Risk and Management Tool associated with this report for a summary of cancer risk and professional society medical management guidelines that may be useful in developing a plan for this patient based on test results and reported personal and/or family history, if applicable. Testing of other family members may assist in the interpretation of this patient s test result. Analysis Description: The Technical Specifications summary ( describes the analysis, method, performance, nomenclature, and interpretive criteria of this test. *The classification and interpretation of all variants identified in this assay reflects the current state of scientific understanding at the time this report was issued, and may change as new scientific information becomes available. Please contact Myriad Professional Support at to discuss any questions regarding this result. myrisk Genetic Result: Page 1 of 2 Las variantes genéticas de importancia incierta no son actualmente accionables; la evidencia disponible no sugiere que estas variantes deban usarse para cambiar el manejo médico del paciente. Las variantes, Indica Polimorfismo/ Polimorfismo son variantes genéticas para las cuales los datos disponibles indican que es muy poco probable que alteren la producción y/o la función de las proteínas o que contribuyan de modo significativo al riesgo de cáncer. No se incluye información sobre este tipo de variantes. 5

6 Positivo: Herramienta de Manejo myrisk Integrated BRACAnalysis with Myriad myrisk Hereditary Cancer myrisk Management Tool RECEIVING HEALTHCARE PROVIDER Physician Name, MD Myriad Healthcare Partners 320 Wakara Way Salt Lake City, UT ORDERING PHYSICIAN: Physician Name, MD SPECIMEN Specimen Type: Buccal Draw Date: Jun 8, 2014 Accession Date: Jun 9, 2014 Report Date: Jun 30, 2014 PATIENT Name: Patient Name Date of Birth: Jan 12, 1970 Patient ID: 1144 Gender: Female Accession #: BLD Requisition #: GENETIC TEST RESULTS SUMMARY INFORMATION Los pacientes recibirán una visión sintética de los resultados genéticos y los niveles de riesgo de cáncer asociados para ocho tipos de cáncer. Los antecedentes personales y/o familiares suministrados se emplean para la evaluación del riesgo basado en antecedentes familiares. El símbolo en el recuadro naranja indica que algo requiere atención por parte del proveedor de atención médica. Si corresponde, se brinda información sobre manejo modificado en las páginas subsiguientes. GENE BRCA1 RESULT: POSITIVE CLINICALLY SIGNIFICANT MUTATION IDENTIFIED Note: CLINICALLY SIGNIFICANT, as defined in this report, is a genetic change that is associated with the potential to alter medical intervention. ADDITIONAL FINDINGS: NO VARIANT(S) OF UNCERTAIN SIGNIFICANCE (VUS) IDENTIFIED MUTATION c.68_69del (p.glu23valfs*17) PERSONAL / FAMILY HISTORY SUMMARY AND MANAGEMENT INFORMATION FAMILY MEMBER Patient CANCER / CLINICAL DIAGNOSIS None Mother Breast 45 Maternal Aunt Breast 55 AGE AT DIAGNOSIS This information was provided by a qualified healthcare provider on the test request form and was not verified by Myriad. THIS GENETIC TEST RESULT IS ASSOCIATED WITH THE FOLLOWING CANCER RISKS: HIGH RISK: Female Breast, Ovarian ELEVATED RISK: Pancreatic MODIFIED MEDICAL MANAGEMENT MAY BE APPROPRIATE myrisk Management Tool: Page 1 of 5 6

7 En informes con un resultado positivo, la Herramienta de Manejo myrisk combina la información genética con los antecedentes familiares para ofrecer consideraciones de manejo basadas en las pautas generales Herramienta de Manejo basada en pautas generales Las recomendaciones para el manejo clínico provienen de la National Comprehensive Cancer Network (NCCN) así como de otros grupos de consenso y especialidad. Los proveedores pueden indicar otras consideraciones personalizadas de manejo según sea necesario. Aspectos generales relativos a los genes y el riesgo de cáncer Información para la familia myrisk Management Tool Associated with: Name: Patient Name DOB: Jan 12, 1970 Accession #: BLD Report Date: Jun 30, 2014 WHAT MANAGEMENT FOR CANCER RISKS SHOULD BE CONSIDERED? Clinical management guidelines myrisk are Management based on this patient s Tool personal and Associated family history with: and genetic test results. Unless otherwise stated, management guidelines included below are limited to those issued by the National Comprehensive Cancer Network (NCCN). See the Name: Patient Name DOB: Jan 12, 1970 Accession #: BLD Report Date: Jun 30, 2014 reference listed for more details. If management for a specific cancer (e.g., breast) is available due to multiple causes (e.g., a mutation and a family history, or multiple mutations in different genes), only the most aggressive management is shown. Guidelines related to the patient s long-term care for cancer prevention are included. Guidelines for the treatment of an existing cancer are not included. Any OVERVIEW discussion of medical management options myrisk for general Management informational purposes Tool only and does Associated not constitute with: a recommendation. While genetic testing and Hereditary medical society Breast guidelines and Ovarian provide Cancer important Syndrome and useful (HBOC): information, medical management decisions should be made in consultation between This each patient patient has and been his Name: found or her Patient to healthcare have Name a mutation provider. in the BRCA1 DOB: Jan gene. 12, Individuals 1970 with mutations Accession in BRCA1 #: BLD have a condition called Report Date: Jun 30, 2014 Hereditary Breast and Ovarian Cancer syndrome (HBOC). Women with HBOC have a high risk for developing breast and ovarian cancer. There FREQUENCY are also high risks for fallopian tube cancer and PROCEDURE primary peritoneal cancer. AGE TO BEGIN (Unless otherwise RELATED TO Men with HBOC CANCER due to mutations RISK FOR in BRCA1 have CLINICALLY an elevated risk SIGNIFICANT for breast and indicated prostate MUTATION by findings) cancer. The increased risk for prostate FEMALE BREAST cancer may be most significant at younger ages. Breast awareness- Women Male and should female be patients CANCER familiar with with TYPE HBOC due to mutations in BRCA1 have an elevated CANCER risk for pancreatic RISK cancer. RISK FOR GENERAL POPULATION their breasts and promptly Although report there changes are high to cancer their risks for patients with HBOC, there are interventions that have been shown to be effective at reducing 18 years NA BRCA1 healthcare provider. many Periodic, of these consistent risks. breast Guidelines selfexamination from the National Comprehensive Cancer FOR Network FEMALE (NCCN) RELATIVES for the medical management of patients (BSE) may with facilitate HBOC are breast listed awareness below. It is recommended that patients with BRCA1 mutations and a diagnosis of HBOC be managed by a multidisciplinary team FEMALE with BREAST Clinical breast exam 1 experience in the prevention 25 years and treatment of the Every cancers 6 to associated 12 monthswith HBOC. BRCA1 To age 50 Up to 51% 1.9% 25 years, or individualized based on Mammography and Breast MRI 1 Annually BRCA1 To age 70 earliest diagnosis in family Up to 87% 7.3% WHAT ARE THE PATIENT S GENE-RELATED CANCER RISKS? Consider options for breast cancer chemoprevention If more than one gene Second mutation Breast increases within a 5 specific years of cancer Individualized First Breast risk (e.g., breast), only the highest NA20% cancer risk is shown. BRCA1 If this patient has 2% (i.e., tamoxifen) 1 more than one gene mutation, risk estimates may be different, as this analysis does not account for possible interactions between gene OVARIAN Consider risk-reducing mutations. mastectomy 1 Individualized NA BRCA1 To age 50 Up to 23% 0.2% OVARIAN To age 70 Up to 44% 0.7% Consider options for ovarian cancer chemoprevention BRCA1 (i.e., oral contraceptives) 1 Individualized Ovarian within 10 years after Breast NA 12.7% <1% RISK FOR CANCER TYPE 35 to 40 of FOR GENERAL MALE POPULATION RELATIVES CANCER RISK years, after completion RELATED TO Bilateral salpingo-oophorectomy 1 childbearing, or individualized based NA BRCA1 FEMALE BREAST MALE BREAST on the earliest diagnosis in the family To age 50 To age 70 Up to 51% 1.9% 1.2% BRCA1 <0.1% Consider transvaginal ultrasound and CA years, or individualized based on Every 6 months BRCA1 measurement 1 To age 70 PROSTATE earliest diagnosis Up to in 87% the family 7.3% BRCA1 PANCREATIC Second primary within To 5 age years 70of first diagnosis 20% 2.0% Up to 16% BRCA1 8.2% Currently there are OVARIAN no specific medical management FOR FEMALE AND MALE RELATIVES NA NA BRCA1 guidelines for pancreatic cancer risk To age 50 PANCREATIC Up to 23% 0.2% BRCA1 NCCN To age Clinical 70Practice To age 80 Guidelines in Oncology High-Risk Up Assessment: to 44% 0.7% Elevated Risk V June 10. BRCA1 1% 1. Daly M, et al. : Genetic/Familial Breast and Ovarian. Available at Ovarian cancer within 10 years of breast cancer diagnosis 12.7% <1% BRCA1 PANCREATIC To age 80 Elevated Risk 1.0% BRCA1 Notes for Personalized Management: Please contact Myriad Professional Support at to discuss any questions regarding this result. END OF MYRISK MANAGEMENT TOOL. myrisk Management Tool: Page 3 of 5 myrisk Management Tool: Page 2 of 5 myrisk Management Tool: Page 5 of 5 No se evalúan los cánceres personales para las consideraciones de riesgo y manejo. Las consideraciones de manejo médico que se suministran solo pretenden presentar aspectos generales y se ofrecen con fines informativos. El cuidado efectivo del paciente es responsabilidad del médico tratante y debe basarse en una cuidadosa revisión de todos los factores asociados con el paciente así como la consideración de las referencias aquí mencionadas y otros recursos. 7

8 Negativo: Herramienta de Manejo myrisk Integrated BRACAnalysis with Myriad myrisk Hereditary Cancer myrisk Management Tool RECEIVING HEALTHCARE PROVIDER Physician Name, MD Myriad Healthcare Partners 320 Wakara Way Salt Lake City, UT ORDERING PHYSICIAN: Physician Name, MD SPECIMEN Specimen Type: Buccal Draw Date: Jun 8, 2014 Accession Date: Jun 9, 2014 Report Date: Jun 30, 2014 PATIENT Name: Patient Name Date of Birth: Jan 12, 1980 Patient ID: 1144 Gender: Female Accession #: BLD Requisition #: Los pacientes recibirán una visión sintética de los resultados genéticos y los niveles de riesgo de cáncer asociados para los ocho tipos de cáncer. GENETIC TEST RESULTS SUMMARY INFORMATION RESULT: NEGATIVE / NO CLINICALLY SIGNIFICANT MUTATION IDENTIFIED Note: CLINICALLY SIGNIFICANT, as defined in this report, is a genetic change that is associated with the potential to alter medical intervention. ADDITIONAL FINDINGS: VARIANT(S) OF UNCERTAIN SIGNIFICANCE (VUS) IDENTIFIED No clinically significant mutations were identified in this patient. However, based on personal/family history, the patient s cancer risks may still be increased over the general population. Clinical management should be based upon personal and family history. Los antecedentes personales y/o familiares suministrados se emplean para la evaluación del riesgo basado en antecedentes familiares. El símbolo en el casillero naranja indica que algo requiere atención por parte del proveedor de atención médica. Si corresponde, se incluye información sobre manejo modificado en las páginas subsiguientes. PERSONAL / FAMILY HISTORY SUMMARY AND MANAGEMENT INFORMATION FAMILY MEMBER Patient CANCER / CLINICAL DIAGNOSIS None Father Prostate 42 Paternal Aunt Breast 31 Maternal Aunt Endometrial 49 AGE AT DIAGNOSIS This information was provided by a qualified healthcare provider on the test request form and was not verified by Myriad. MODIFIED MEDICAL MANAGEMENT MAY BE APPROPRIATE myrisk Management Tool: Page 1 of 3 8

9 La Herramienta de Manejo myrisk también ayuda a generar conciencia sobre consideraciones de manejo adicionales para los pacientes con resultados negativos Herramienta de Manejo myrisk basada en pautas generales Las consideraciones de manejo para riesgos familiares son evaluadas tanto para pacientes con resultados positivos como negativos. Las pautas y criterios empleados incluyen: NCCN, CAPS, modelo de Claus para valoración del riesgo, (riesgo de >20% de presentar cáncer de mama a lo largo de la vida), criterios de Amsterdan, entre otros. Cuando se identifica una o más de una variante genética de importancia incierta el manejo clínico se basa en los antecedentes familiares y/o personales y en otros factores de riesgo. myrisk Management Tool Associated with: Name: Patient Name DOB: Jan 12, 1980 Accession #: BLD Report Date: Jun 30, 2014 WHAT MANAGEMENT FOR CANCER RISKS SHOULD BE CONSIDERED? Clinical management guidelines are based on this patient s personal and family history and genetic test results. Unless otherwise stated, management guidelines included below are limited to those issued by the National Comprehensive Cancer Network (NCCN). See the reference listed for more details. If management for a specific cancer (e.g., breast) is available due to multiple causes (e.g., a mutation and a family history, or multiple mutations in different genes), only the most aggressive management is shown. Guidelines related to the patient s long-term care for cancer prevention are included. Guidelines for the treatment of an existing cancer are not included. Any discussion of medical management options is for general informational purposes only and does not constitute a recommendation. While genetic testing and medical society guidelines provide important and useful information, medical management decisions should be made in consultation between each patient and his or her healthcare provider. PROCEDURE AGE TO BEGIN FREQUENCY (Unless otherwise indicated by findings) FEMALE BREAST Breast Awareness - Women should be familiar with their breasts and promptly report changes to their healthcare provider. Periodic, consistent breast selfexamination (BSE) may facilitate breast awareness 1 Individualized NA Clinical breast exam 1,2 30 years Every 6 to 12 months Consider breast MRI in addition to mammography 1,2 30 years Annually Consider risk reduction strategies 1,2 Individualized NA OTHER CONSIDERATIONS One or more Variants of Uncertain Significance (VUS) were identifed (see myrisk Genetic Result). Recommend clinical management based on personal / family history and other risk factors. RELATED TO Family History (>20% lifetime risk) Family History (>20% lifetime risk) Family History (>20% lifetime risk) Family History (>20% lifetime risk) Individualized NA Uncertain Variant(s) 1. Bevers TB, et al. NCCN Clinical Practice Guidelines in Oncology : Breast Cancer Screening and Diagnosis. V July 3. Available at 2. Claus EB, et al. Autosomal dominant inheritance of early-onset breast cancer. Implications for risk prediction. Cancer : PMID: Notes for Personalized Management: myrisk Management Tool: Page 2 of 3 No se evalúan los cánceres personales para las consideraciones de riesgo y manejo. Las consideraciones de manejo médico que se suministran solo pretenden presentar aspectos generales y se ofrecen con fines informativos. El cuidado efectivo del paciente es responsabilidad del médico tratante y debe basarse en una cuidadosa revisión de todos los factores asociados con el paciente así como la consideración de las referencias aquí mencionadas y otros recursos. 9

10 Cuadro de genes y tipos de cáncer asociados Se analizan los genes que poseen riesgos de cáncer establecidos y son clínicamente accionables La selección de los genes se centra en ochos tipos de cáncer basados en la superposición de la contribución hereditaria y el síndrome Tipos de cáncer asociados* Genes de mama de ovario colorrectal de endometrio melanoma de páncreas gástrico de próstata Otro BRCA1, BRCA2 MLH1, MSH2, MSH6, PMS2, EPCAM STK11 APC, BMPR1A, SMAD4 MUTYH CDK4, CDKN2A TP53 PTEN CDH1 PALB2, ATM CHEK2 NBN BARD1 BRIP1, RAD51C RAD51D *Las mutaciones genéticas podrían estar asociadas con otros tipos de cáncer y características clínicas. Solo grandes reorganizaciones 10

11 Optimice el cuidado de los pacientes con resultados precisos y confiables De Myriad, su asesor de confianza Líder mundial en cáncer hereditario Más de 20 años de experiencia en pruebas genéticas para el cáncer Más de 1 millón de pacientes evaluados Más de 60,000 proveedores han elegido las pruebas de Myriad Desempeño del más alto nivel Sensibilidad analítica del ~99.92% 1* Confianza como elpatrón de oro de la calidad Los estudios de validación muestran una concordancia del 100% con el método Sanger para la secuenciación y análisis de las grandes reorganizaciones Optimización de la prueba Diseño optimizado de biblioteca de cebadores NGS para aumentar la sensibilidad y especificidad de la prueba Complementado con múltiples técnicas personalizadas (p. ej. microarreglos específicos) Impulsado por la tecnología de clasificación de variantes myvision Compromiso de por vida con la interpretación precisa de las variantes Más de 1 millón de dólares invertidos en el desarrollo de técnicas de clasificación de variantesy una base de datos curada respaldada por más de 30 científicos Técnicas para la clasificación de variantes validadas y con una precisión de más del 99% exclusivas de Myriad 2,3 *Límite inferior del >99.92% intervalo de confianza del 95%. 1. Roa B, Bowles K, Bhatnagar S, et al. Development of a next generation sequencing panel to assess hereditary cancer risk that includes clinical diagnostic analysis of the BRCA1 and BRCA2 genes. Poster presented at: American Society of Human Genetics 2013 Annual Meeting, October 22-26, 2013, Boston, MA. 2. Bowles KR, Morris B, Hughes E, et al. A clinical history weighting algorithm accurately classifies BRCA1 and BRCA2 variants. Poster presented at: American Society of Human Genetics 2013 Annual Meeting, October 22-26, 2013, Boston, MA. 3. Eggington J, Bowles K, Moyes K, et al. A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes. Clin Genet Nov 8. doi: /cge [Epub ahead of print]. 11

12 La ventaja Myriad: apoyo del más alto nivel Apoyo financiero Los pacientes más apropiados pagan $0 Si sus pacientes tienen inquietudes cuando reciben una factura de Myriad, pueden llamar al número de teléfono que aparece en la factura. Le garantizamos que trabajaremos juntos para encontrar una solución Los pacientes no asegurados que cumplen con los requisitos médicos y financieros específicos pueden participar en el Programa de Asistencia Financiera Myriad Apoyo para pacientes A través del programa en línea MySupport360, Myriad pone a su pacientes en contacto con una gran cantidad de información de utilidad, consejos expertos y la posibilidad de compartir sus experiencia con otras personas Apoyo para médicos Un equipo de especialistas médicos altamente capacitados está disponible para consultas Puede acceder a estos servicios de apoyo por teléfono, correo electrónico o en persona Visite para acceder a una amplia gama de recursos y educación médica Myriad Genetic Laboratories, Inc. 320 Wakara Way Salt Lake City, UT Myriad, el logotipo de Myriad, Myriad myrisk Hereditary Cancer, el logotipo de Myriad myrisk Hereditary Cancer, Myriad Promise, el logotipo de Myriad Promise, MySupport360 y el logotipo de MySupport360 son marcas comerciales o marcas registradas de Myriad Genetics, Inc. en los Estados Unidos y en otras jurisdicciones , Myriad Genetic Laboratories, Inc. MRRPTOVWSP/06-14